Canonical Allele Identifier: CA393759308
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325583T>A , CM000677.2:g.89325583T>A GRCh38
NC_000015.9:g.89868814T>A , CM000677.1:g.89868814T>A GRCh37
NC_000015.8:g.87669818T>A NCBI36
NG_008218.1:g.14213A>T
NG_008218.2:g.14213A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1816A>T ENSP00000516154.1:p.Thr606Ser
ENST00000268124.11:c.1816A>T MANE Select ENSP00000268124.5:p.Thr606Ser
ENST00000530292.3:c.1417A>T ENSP00000432885.2:p.Thr473Ser
ENST00000635986.2:c.1816A>T ENSP00000490653.2:p.Thr606Ser
ENST00000636774.1:c.*383A>T ENSP00000489799.1:n.*383A>T
ENST00000637238.1:c.553A>T ENSP00000490756.1:p.Thr185Ser
ENST00000637264.1:c.888A>T
ENST00000666746.1:c.1393A>T
ENST00000670281.1:c.136A>T ENSP00000499709.1:p.Thr46Ser
ENST00000672071.1:n.2014A>T
ENST00000672923.2:n.1919A>T
ENST00000268124.9:c.1816A>T ENSP00000268124.5:p.Thr606Ser
ENST00000442287.6:c.1816A>T ENSP00000399851.2:p.Thr606Ser
ENST00000526314.2:c.198A>T
ENST00000526398.1:c.5A>T
ENST00000532584.5:n.18A>T
ENST00000631044.2:c.*1199A>T ENSP00000486730.1:n.*1199A>T
NM_001126131.1:c.1816A>T NP_001119603.1:p.Thr606Ser
NM_002693.2:c.1816A>T NP_002684.1:p.Thr606Ser
NM_001126131.2:c.1816A>T NP_001119603.1:p.Thr606Ser
NM_002693.3:c.1816A>T MANE Select NP_002684.1:p.Thr606Ser